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| ==Synonyms== | | ==Synonyms== |
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− | Put your text here
| + | "Core-Binding Factor Beta Subunit"; CBF-Beta; PEBP2B; |
− | | |
− | EXAMPLE: Tumor protein p53, ''LFS1, p53, BCC7, TRP53''
| |
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| ==Genomic Location== | | ==Genomic Location== |
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− | '''Cytoband:''' Put your text here. EXAMPLE: 17p13.1 | + | '''Cytoband:''' 16q22.1 |
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| '''Genomic Coordinates:''' | | '''Genomic Coordinates:''' |
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− | Put your text here
| + | chr16:67,029,116-67,101,058(GRCh38/hg38) |
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− | EXAMPLE: chr17:7,571,720-7,590,868 [hg19]
| + | chr16:67,063,019-67,134,961(GRCh37/hg19) |
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− | EXAMPLE: chr17:7,668,402-7,687,538 [hg38]
| + | ==Cancer Category/Type== |
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− | ==Cancer Category/Type==
| + | '''Acute Myeloid Leukemia (AML);''' |
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− | AML
| + | inv(16)(p13;q22) or t(16)(p13;q22), (CBFB andMYH11) also translocation confer a favorable prognosis in their respective diseases (2, 6) |
− | inv(16)(p13;q22) or t(16)(p13;q22), which disrupt CBFB the non-DNA-binding partner of RUNX1 and the MYH11 gene: also translocation confer a favorable prognosis in their respective diseases (2) | |
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| ==Gene Overview== | | ==Gene Overview== |
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− | Put your text here.
| + | The protein encoded by CFBF can bind the protein encoded by RUNX1 to form "Core Binding Factor", a hetero-dimeric transcription factor, which regulates a number of genes responsible for hematopoiesis and osteogenesis (2). The beta subunit is a non-DNA binding regulatory subunit and it allosterically enhances DNA binding by alpha subunit (Runx1 protein). In some cases, a pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a chimeric transcript consisting of the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain 11. This chromosomal rearrangement is associated with acute myeloid leukemia of the M4Eo subtype. |
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| ==Common Alteration Types== | | ==Common Alteration Types== |
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− | Put your text here and/or fill in the table with an X where applicable
| + | '''Acute Myeloid Leukemia (AML);''' |
| + | |
| + | inv(16)(p13;q22) or t(16)(p13;q22), (CBFB andMYH11) |
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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| '''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBFB ''CBFB'' by GeneCards]''' - general gene information and summaries | | '''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=CBFB ''CBFB'' by GeneCards]''' - general gene information and summaries |
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− | '''[https://www.ncbi.nlm.nih.gov/books/NBK1311/ GeneReviews]''' - information on Li Fraumeni Syndrome | + | '''[https://www.ncbi.nlm.nih.gov/gene/865 CBFB in NCBI]''' - general gene information and summaries |
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| ==References== | | ==References== |